Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report

• Main Authors: Maryam Sobhani (Author), Mohammad Amin Tabatabaiefar (Author), Soudeh Ghafouri-Fard (Author), Asadollah Rajab (Author), Asal Hojjat (Author), Abdol-Mohammad Kajbafzadeh (Author), Mohammad Reza Noori-Daloii (Author)
• Format: Book
• Published: BMC, 2020-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Mutations of the WFS1 gene are responsible for most cases of Wolfram syndrome (WS), a rare, recessively inherited neurodegenerative disorder characterized by juvenile-onset non-autoimmune diabetes mellitus and optic atrophy. Variants of WFS1 are also associated with non-syndromic...